5 Fs i | “ tee dag and retention ofthe gene in cells that retain that chromosome ; cchromosorne fl segment. 3. Cytogenetic tert IVCT bq),can | ae means of identifying the location of genes escent in sity hybridization (FISH) (see ¢ techniques, ge gene directly on a specific chrom! indirect 4, Gene dosage studies are af Te cept that the amount of DNA or protein prog. a Thee sues see rs sorety proportional to the number of copies of present in an individual OF Che oy exhibits 1.5 t re if a cell with trisomy for chromosome warns: For example, ia et normal cell and 3 times as much of 7 protein as much oe 21, the implication is that the gene for that pein is on acell wi 5 chromosome 21. i that contain different, but complementary, informa. | The a i ey inceringly fine scale, these ares | 1. The cytogenetic map, which places genes into specific cytogenetic bands of the i karyotype | 2. The linkage map (sometimes called a genetic map), which orders genes and markers | by recombination distances (i.e., M) i | 1 uct speci that gene present s i markers along the DNA strand of a particu. 3. The pal map whi oe yee makers ona physical map i measird i megabases, kilobases, or base pairs.) 4. The ONA sequence, which can also be thought ‘of as a map because il represents a linear aray of all the genes and markers it encodes J Importance of gene mapping 1. The gene map is the anatomy of the human genome. Just as knowledge of anatomy is necessary to understand the function of the human body, knowledge of the gene map is necessary to understand the (unction of the human genome. 2, Analysis of the heterogeneity and segregation of human genetic diseases is substan: tially enhanced by a detailed gene map. 3. Improved knowledge of genomic organization i imal sirate- gies for gene therapy 8 Orga n is necessary to develop optimal 4 Gene mapping provides information regarding linkage tha i clinically useful (se | OF GENETIC HETEROGENEITY Is the one genotype. Production of the same phenotype by more than “Al There are two kinds of genetic het lerogeneily that it 4. Locus heterogeneity i the y that are important clinically. netic Loci For example fn of similar phenotypes by mutations at ciferest may produce mental ae icieot, an autosomal dominant condition that on fron mutation of a gene on the ie and characteristic cutaneous lesions, 2" @ gene on the shon ar ng an im of chromosome 16, ily expect all such cl for the mutant gene. Children to be 1 This is fee fected hecause cat of both parents are homozye0us in autosomal récessive deafness: # unaffected children. (One would ordina” x z B] Gon with tial v caus